A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2236652



Internal ID874745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:103822634..103822940hg38UCSC Ensembl
Outerchr7:103822430..103823156hg38UCSC Ensembl
Innerchr7:103463081..103463387hg19UCSC Ensembl
Outerchr7:103462877..103463603hg19UCSC Ensembl
Innerchr7:103250317..103250623hg18UCSC Ensembl
Outerchr7:103250113..103250839hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38727
hg19727
hg18727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4580468
SamplesNA18507
Known GenesRELN
MethodSequencing
AnalysisHierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.
PlatformNot specified
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2236652
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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